Klippel-Trénaunay Syndrome

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Note: the term Klippel-Trénaunay-Weber syndrome has been variably used with different meanings:

Synonymously with Klippel-Trénaunay syndrome.

As a separate condition, also known as Parkes Weber's syndrome (limb enlargement with a high-flow capillary malformation and arteriovenous fistula).

Current consensus separates the names into Klippel-Trénaunay syndrome and Parkes Weber's syndrome, so as to distinguish between the two conditions. This is clinically relevant because their management and prognosis differ.

Klippel-Trénaunay (KT) syndrome is a rare condition, characterised by the triad of:

Cutaneous capillary malformations - usually port-wine stains.

Soft tissue and bone hypertrophy (occasionally hypotrophy) - usually of one lower limb.

Varicose veins or venous malformations.

Varicosities and limb hypertrophy are not always present at birth and may take several years to manifest. Not all cases have the full triad of features.[3] There is wide variation in the clinical manifestations of the condition. Some patients have complex features, including internal abnormalities.

The affected limb may also have abnormalities of lymphatic channels and drainage, along with arterial malformations. Blood flow through the capillary abnormalities in KT syndrome is low-velocity, in contrast to Parkes Weber's syndrome where there is a true arteriovenous malformation with high-velocity blood flow.

The condition may affect more than one limb, an internal organ or the head and neck. Visceral involvement is thought to be more common than previously supposed, occurring in perhaps 20% of patients.[3]

Investigation of the vascular or lymphatic malformations - various methods may be used; for example:

Doppler ultrasound.

Angiography or MRI/CT angiography.

MRI or CT.

CT of the abdomen and pelvis may help to identify visceral haemangiomas.[3]

Whole-body blood pool scintigraphy.

Lymphoscintigraphy may be used to assess the lymphatic system and the cause of limb-length discrepancy.

Imaging of the bone and soft tissues of the affected limb, using plain X-rays, MRI or CT scan.

If there is gastrointestinal bleeding, it may be difficult to locate the source by endoscopy, since the venous malformations can be widely spread. Angiography can be helpful for both diagnosis and treatment of these lesions and has been used to locate and treat severe bleeding in one reported case.[8]

There is no curative therapy. Management requires a multidisciplinary and individualised approach, aiming to ameliorate the patient's symptoms and correct the consequences of limb-length discrepancy.[14]

Conservative measures

Graduated compression garments help to reduce the effect of chronic venous insufficiency in the affected limb. Intermittent pneumatic compression pumps may also be used to the same effect. These help to reduce the effects of venous insufficiency but do not affect the ultimate size of the limb.

Prophylaxis for VTE may be appropriate.

Standard treatments for cellulitis or thrombophlebitis.

Pain management.

Contraception: oestrogen-containing contraceptives are contra-indicated where there is a history of VTE and should probably be avoided in KT syndrome because of the increased VTE risk (although there is no specific UK contraception guideline for this condition).

Pregnant women with KT syndrome need careful monitoring due to a range of haematological, obstetric and anaesthetic complications.[15]

Surgery for long bone fractures in the affected limbs is associated with high risk due to increased haemorrhage. This requires careful pre-operative planning, surgical technique and intra-operative/postoperative support.[17]

Gastrointestinal bleeds may require angiographic treatment - eg, selective arterial embolisation has been used in one case; or intra-arterial infusion of vasopressin has been suggested.[8] Surgical resection of the bowel may be required.[3]

For splenic haemangiomas, small ones (<4 cm) have been managed conservatively; splenectomy may be considered for larger lesions.[3]

Erectile dysfunction has been successfully treated by ligation of the affected veins.[9]

Orthopaedic interventions:

Limb length discrepancy may be treated with orthoses or orthopaedic surgery, depending on its severity.

De-bulking surgery for grossly enlarged limbs is occasionally used but carries a significant risk of lymphatic and venous damage.

Amputation may be used in cases where a limb or digit is of little functional use and causes severe symptoms or complications.

Prognosis

Life expectancy is largely normal, depending on the severity of the malformation and thus the likelihood of complications.[1]

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